structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small

molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched

gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid

levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are

responsible for as much as 50% of pre-lingual, recessive deafness. (provided by RefSeq, Oct 2008)

GeneCards Summary for GJB2 Gene:

GJB2 (gap junction protein, beta 2, 26kDa) is a protein-coding gene. Diseases associated with GJB2 include bart-pumphrey syndrome, and hypotrichosis-deafness syndrome. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJB3.